view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREB5_chr7_28407518_28830894 | 28775543 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02004.hp2 HG02155.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0064 a0001c0001t0001g0097 others(10): Show |
13 | 68 | 0.1912 | 24 | c.703 others(43): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0199 | 1 | 212 | 0.0047 | 24 | c.325 others(41): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3787070 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0006 | a0002c0006t0016 | a0002c0006t0016g0267 | 1 | 256 | 0.0039 | 24 | c.133 others(43): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 5/30 | chr16 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173082003 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 139 | 0.0072 | 24 | c.9+1 others(37): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173117579 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 a0001c0001t0002g0284 |
2 | 159 | 0.0126 | 24 | c.168 others(43): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173117579 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 a0001c0001t0002g0241 |
2 | 159 | 0.0126 | 24 | c.168 others(43): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBZF_chr11_85652990_85670129 | 85669001 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 6 | 0.1667 | 24 | c.-41 others(35): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CREG1_chr1_167536013_167558762 | 167536062 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 24 | 0.0417 | 24 | c.*62 others(35): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 4950 | chr1 | TogoVar | |||||||
CREG1_chr1_167536013_167558762 | 167540386 | T | TAGCAGCA others(17): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG03688.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002 a0001c0001t0001g0072 a0001c0001t0006g0096 |
3 | 32 | 0.0938 | 24 | c.*18 others(35): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 626 | chr1 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9931453 | T | TCACACAC others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 365 | 0.0027 | 24 | c.-24 others(35): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 2380 | chr3 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9931470 | C | CACACACA others(17): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 261 | 0.0038 | 24 | c.-24 others(35): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 2363 | chr3 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9931470 | C | CACACATA others(17): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 261 | 0.0038 | 24 | c.-24 others(35): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 2363 | chr3 | TogoVar | |||||||
CRELD1_chr3_9928834_9950406 | 9931470 | C | CACATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 261 | 0.0038 | 24 | c.-24 others(35): Show |
CRELD1 | ENSG00000163703.20 | transcript | ENST00000452070.6 | protein_coding | 2363 | chr3 | TogoVar | |||||||
CREM_chr10_35121846_35217953 | 35149889 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0199 |
2 | 32 | 0.0625 | 24 | c.168 others(41): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35191086 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(52): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 others(52): Show |
55 | 56 | 0.9821 | 24 | c.598 others(41): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20927192 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0263 a0001c0001t0002g0226 |
2 | 53 | 0.0377 | 24 | c.312 others(41): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1427030 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 34 | 0.0294 | 24 | c.778 others(41): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189196 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02155.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0017a0002c0004others(2): Show | a0001c0007t0001a0001c0017t0001a0002c0004t0001others(2): Show | a0001c0007t0001g0084 a0001c0017t0001g0160 a0002c0004t0001g0004 others(3): Show |
6 | 130 | 0.0462 | 24 | c.*17 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1293 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189196 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA19005.hp1 |
a0001a0004 | a0001c0007a0004c0012 | a0001c0007t0001a0004c0012t0004 | a0001c0007t0001g0016 a0004c0012t0004g0096 |
2 | 126 | 0.0159 | 24 | c.*17 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1293 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189196 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02683.hp1 |
a0001a0002 | a0001c0007a0002c0010 | a0001c0007t0001a0002c0010t0001 | a0001c0007t0001g0110 a0001c0007t0001g0137 a0002c0010t0001g0161 |
3 | 127 | 0.0236 | 24 | c.*17 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1293 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189196 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp1 |
a0002 | a0002c0009a0002c0010 | a0002c0009t0001a0002c0010t0001 | a0002c0009t0001g0101 a0002c0010t0001g0145 a0002c0010t0001g0162 |
3 | 127 | 0.0236 | 24 | c.*17 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1293 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189213 | G | GTGTGTAT others(17): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0128 | 1 | 15 | 0.0667 | 24 | c.*16 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1276 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189213 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 NA18995.hp1 NA19009.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0002a0002c0006t0002 | a0001c0002t0002g0107 a0001c0002t0002g0115 a0002c0006t0002g0067 |
3 | 17 | 0.1765 | 24 | c.*16 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1276 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1189213 | G | GTGTGTGT others(17): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0056 | 1 | 15 | 0.0667 | 24 | c.*16 others(35): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1276 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191295 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0074 |
2 | 77 | 0.0260 | 24 | c.853 others(39): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191295 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | NA19085.hp2 NA21309.hp2 |
a0001a0002 | a0001c0033a0002c0009 | a0001c0033t0001a0002c0009t0001 | a0001c0033t0001g0152 a0002c0009t0001g0017 |
2 | 77 | 0.0260 | 24 | c.853 others(39): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1204150 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG02165.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0045 others(8): Show |
11 | 33 | 0.3333 | 24 | c.350 others(41): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 3/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1211449 | G | GTGGGTGG others(17): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 | 1 | 165 | 0.0061 | 24 | c.79+ others(39): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1212892 | T | TCCCTCCC others(17): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 | 1 | 138 | 0.0072 | 24 | c.-25 others(33): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 244 | chrX | TogoVar | |||||||
CRLS1_chr20_6001123_6045053 | 6011572 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 HG04184.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0220 a0001c0001t0001g0286 a0001c0001t0008g0237 |
3 | 32 | 0.0938 | 24 | c.444 others(41): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CRMP1_chr4_5815764_5898086 | 5837650 | T | TAATAAAA others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(16): Show | a0001c0002t0001g0060 a0001c0002t0001g0077 a0001c0002t0001g0080 others(63): Show |
66 | 274 | 0.2409 | 24 | c.131 others(41): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5837650 | T | TAATAAAA others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 209 | 0.0048 | 24 | c.131 others(41): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5856399 | T | TACCATCA others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01109.hp2 others(37): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0058 a0001c0001t0001g0113 a0001c0001t0001g0221 others(36): Show |
40 | 312 | 0.1282 | 24 | c.656 others(38): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5856777 | T | TACTAACA others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0007 | a0007c0034 | a0007c0034t0001 | a0007c0034t0001g0309 | 1 | 312 | 0.0032 | 24 | c.656 others(39): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5868261 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 |
a0003 | a0003c0024a0003c0027 | a0003c0024t0004a0003c0027t0003 | a0003c0024t0004g0207 a0003c0027t0003g0206 |
2 | 42 | 0.0476 | 24 | c.382 others(41): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5883232 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0281 | 1 | 279 | 0.0036 | 24 | c.381 others(41): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16089306 | G | GTGTGTAT others(17): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0200 | 1 | 288 | 0.0035 | 24 | c.*23 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2388 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16089355 | C | CATATATG others(17): Show |
3_prime_UTR_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0026 | 1 | 287 | 0.0035 | 24 | c.*23 others(35): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 10/10 | 2339 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16209273 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 117 | 0.0085 | 24 | c.125 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16254772 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0055 | 1 | 288 | 0.0035 | 24 | c.111 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16303477 | T | TAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02293.hp1 NA18939.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0002g0023 others(2): Show |
5 | 91 | 0.0549 | 24 | c.790 others(41): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 1 | 112 | 0.0089 | 24 | c.535 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0036 | 1 | 112 | 0.0089 | 24 | c.535 others(43): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0005 | 1 | 65 | 0.0154 | 24 | c.224 others(41): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98029491 | A | AGCGGCGG others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0031 | 1 | 129 | 0.0078 | 24 | c.24+ others(37): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18689564 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp2 HG02055.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0140 a0001c0001t0001g0242 others(3): Show |
6 | 203 | 0.0296 | 24 | c.126 others(41): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01517.hp1 HG02300.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0058 a0001c0001t0001g0068 others(9): Show |
12 | 158 | 0.0759 | 24 | c.126 others(41): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18689583 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 147 | 0.0068 | 24 | c.126 others(41): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01109.hp1 others(23): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(23): Show |
26 | 116 | 0.2241 | 24 | c.127 others(43): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 49 | 0.0204 | 24 | c.*93 others(35): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar |